ClinVar Miner

List of variants reported as not provided for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.441A>G (p.Glu147=) rs2277158 0.45698
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916 0.03133
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met) rs140760439 0.00337
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_020436.5(SALL4):c.541G>A (p.Val181Met) rs139382539 0.00052
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu) rs147140948 0.00016
NM_013432.5(TONSL):c.2302C>T (p.Arg768Trp) rs747619822 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_004629.2(FANCG):c.1367A>T (p.His456Leu) rs148808709 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_002381.5(MATN3):c.209G>A (p.Arg70His) rs104893640 0.00012
NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr) rs377348789 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys) rs757541406 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00009
NM_004260.4(RECQL4):c.2837G>A (p.Arg946His) rs773154902 0.00009
NM_015909.4(NBAS):c.4031A>T (p.His1344Leu) rs201325677 0.00009
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg) rs200137805 0.00006
NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe) rs556988328 0.00006
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser) rs202009944 0.00006
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620 0.00004
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_002381.5(MATN3):c.693G>C (p.Lys231Asn) rs773642745 0.00004
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu) rs202053091 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_002381.5(MATN3):c.656C>A (p.Ala219Asp) rs28939677 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly) rs80358559 0.00002
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916 0.00002
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) rs752532498 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344 0.00002
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys) rs72645341 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000095.3(COMP):c.500G>A (p.Gly167Glu) rs763887855 0.00001
NM_000112.4(SLC26A2):c.1361A>C (p.Gln454Pro) rs104893921 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr) rs1165230596 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys) rs561190476 0.00001
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter) rs80356519 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) rs1186241291 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_001851.6(COL9A1):c.1150C>T (p.Pro384Ser) rs148751593 0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) rs1182722973 0.00001
NM_002381.5(MATN3):c.659T>C (p.Val220Ala) rs187943382 0.00001
NM_004260.4(RECQL4):c.2059-1G>A rs386833849 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His) rs752847936 0.00001
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln) rs773185855 0.00001
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) rs766644919 0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln) rs1235525082 0.00001
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs) rs786203346 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_080680.3(COL11A2):c.798+67C>T rs772701006 0.00001
GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
GRCh37/hg19 17q22(chr17:56787220-56811584)x1
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile) rs1469541725
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu) rs55953736
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs) rs80359688
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg) rs1401510742
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000089.4(COL1A2):c.368C>A (p.Pro123His) rs1791759808
NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del) rs2145902176
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1156_1158del (p.Asn386del) rs397515510
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) rs193922900
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) rs312262903
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) rs397515511
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) rs312262899
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys) rs312262900
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) rs312262900
NM_000095.3(COMP):c.1754C>T (p.Thr585Met) rs312262900
NM_000095.3(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) rs397515512
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) rs397515513
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) rs149551600
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) rs312262904
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) rs137852655
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe) rs387907372
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) rs1044021305
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter) rs80338688
NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter) rs80338688
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro) rs773847165
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) rs397515537
NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs) rs730880314
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) rs104893993
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu) rs104893991
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs) rs397515538
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu) rs113994156
NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe) rs113994157
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) rs113994158
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) rs104894024
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys) rs913431428
NM_001130144.3(LTBP3):c.2893+1G>T rs2135125210
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) rs113994160
NM_001174147.2(LMX1B):c.422_430del (p.Phe141_Cys143del) rs2118986948
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.5723dup (p.Thr1909fs) rs1555912182
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001457.4(FLNB):c.442T>A (p.Trp148Arg) rs80356493
NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del) rs80356498
NM_001457.4(FLNB):c.4804T>C (p.Ser1602Pro) rs80356501
NM_001457.4(FLNB):c.4927G>T (p.Ala1643Ser) rs80356502
NM_001457.4(FLNB):c.512T>A (p.Leu171Gln) rs80356494
NM_001457.4(FLNB):c.542G>T (p.Gly181Val) rs80356495
NM_001457.4(FLNB):c.549C>G (p.Cys183Trp) rs80356496
NM_001457.4(FLNB):c.602C>T (p.Ala201Val) rs80356499
NM_001457.4(FLNB):c.608A>C (p.Gln203Pro) rs80356497
NM_001457.4(FLNB):c.629G>T (p.Gly210Val) rs80356500
NM_001457.4(FLNB):c.6408del (p.Ser2137fs) rs80356521
NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter) rs80356518
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001852.4(COL9A2):c.843_846+4del rs606231376
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
NM_002335.4(LRP5):c.4349-8C>A rs2153181939
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002381.5(MATN3):c.400G>A (p.Glu134Lys) rs2103484088
NM_002381.5(MATN3):c.437T>G (p.Leu146Arg) rs2103484073
NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del) rs2103484013
NM_002381.5(MATN3):c.518C>A (p.Ala173Asp) rs779413744
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn) rs2103483989
NM_002381.5(MATN3):c.581T>A (p.Val194Asp) rs104893645
NM_002381.5(MATN3):c.584C>A (p.Thr195Lys) rs765225021
NM_002381.5(MATN3):c.626G>C (p.Arg209Pro) rs749845872
NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn) rs2103483937
NM_002381.5(MATN3):c.910T>A (p.Cys304Ser) rs104893639
NM_002449.5(MSX2):c.443C>A (p.Pro148His) rs104893895
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_003995.4(NPR2):c.1557+1G>A rs2132081744
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser) rs993147176
NM_004260.4(RECQL4):c.2059-1G>C rs386833849
NM_004260.4(RECQL4):c.2059-1G>T rs386833849
NM_004260.4(RECQL4):c.2059-78_3201del
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs) rs746222099
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2335_2356del (p.Asp779fs) rs2130678086
NM_004260.4(RECQL4):c.2506_2518del (p.Ser836fs) rs2130673134
NM_004260.4(RECQL4):c.3151A>G (p.Ile1051Val) rs1380694111
NM_004260.4(RECQL4):c.496C>T (p.Gln166Ter) rs2130727746
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys) rs587777113
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs) rs397515388
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter) rs397515389
NM_005445.4(SMC3):c.2535+1G>A
NM_005515.4(MNX1):c.403_404insCCGCCG (p.Ala133_Ala134dup) rs1290429302
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg) rs387907212
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006766.5(KAT6A):c.2525del (p.Ser842fs)
NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys) rs758279337
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu) rs193922922
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) rs80356755
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) rs367543008
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) rs80356754
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015386.3(COG4):c.1546G>C (p.Gly516Arg) rs1555575860
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg) rs2122962845
NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile) rs755503899
NM_020436.5(SALL4):c.2663A>G (p.His888Arg) rs74315429
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter) rs74315428
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly) rs761864966
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser) rs761570342
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2571G>A (p.Leu857=) rs587780821
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) rs1564063967
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) rs1554698681
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_058216.3(RAD51C):c.672_705+65dup rs1555597214
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly) rs1555602136
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu) rs868294395
NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) rs1555409014
NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg) rs119103234
NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly) rs119103234
NM_213599.3(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
Single allele

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