ClinVar Miner

List of variants reported as pathogenic for bone disorder by Revvity Omics, Revvity

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 181
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs) rs747575528 0.00011
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00007
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00005
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344 0.00005
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00003
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00003
NM_014055.4(IFT81):c.190C>T (p.Arg64Ter) rs372027811 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00002
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00002
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.1319del (p.Leu440fs) rs1567517083 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.320-1G>T rs1245504167 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976 0.00001
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00001
NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter) rs1249901214 0.00001
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter) rs747619825 0.00001
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_018112.3(TMEM38B):c.507G>A (p.Trp169Ter) rs1179429999 0.00001
NM_020812.4(DOCK6):c.4106+1G>A rs1192375765 0.00001
NM_173630.4(RTTN):c.3577C>T (p.Arg1193Ter) rs1280580731 0.00001
NM_182760.4(SUMF1):c.445-1G>A rs1237016251 0.00001
NM_182760.4(SUMF1):c.445-2A>G rs1293658639 0.00001
NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter) rs748169616 0.00001
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter) rs771296632
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) rs72549309
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter) rs781436006
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) rs764030196
NM_000135.4(FANCA):c.3349-2A>G rs2038409874
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.50dup (p.Arg18fs) rs748624754
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter) rs2520756362
NM_000202.8(IDS):c.1589T>A (p.Leu530Ter) rs2124648259
NM_000202.8(IDS):c.241C>T (p.Gln81Ter) rs2520897240
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) rs2089436387
NM_000202.8(IDS):c.880-2A>G rs2520813902
NM_000308.4(CTSA):c.1104dup (p.Gln369fs) rs2083116648
NM_000346.4(SOX9):c.124dup (p.Asp42fs) rs2143237315
NM_000396.4(CTSK):c.158dup (p.Asn53fs) rs764168526
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000512.5(GALNS):c.1142del (p.Pro381fs) rs746086649
NM_000512.5(GALNS):c.120+1G>A rs911877265
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter) rs2142993804
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter) rs1295162107
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.262+1G>C rs2145290458
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter) rs2140397262
NM_000900.5(MGP):c.94+1G>A rs111320759
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter) rs2112457636
NM_001127671.2(LIFR):c.2034del (p.Ser679fs) rs2530987988
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs) rs2530954242
NM_001361.5(DHODH):c.248_261del (p.Leu83fs) rs776973679
NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter) rs2134896978
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) rs1821344202
NM_001382391.1(CSPP1):c.2538+1G>T rs2129560295
NM_001567.4(INPPL1):c.2213-2A>C rs1948918434
NM_001567.4(INPPL1):c.306C>G (p.Tyr102Ter) rs779291537
NM_001567.4(INPPL1):c.3551_3552+1del rs777012152
NM_002076.4(GNS):c.459+1_459+2del rs2136249835
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_004429.5(EFNB1):c.111G>A (p.Trp37Ter) rs2147973166
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004530.6(MMP2):c.1287del (p.Asn430fs) rs794727916
NM_004530.6(MMP2):c.1289del (p.Asn430fs) rs2142358933
NM_004608.4(TBX6):c.1143dup (p.Tyr382fs) rs2151031013
NM_005430.4(WNT1):c.255del (p.Leu86fs) rs778294620
NM_005850.5(SF3B4):c.35-1G>A rs2101647799
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3465-1G>C rs755084205
NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter) rs915028258
NM_006031.6(PCNT):c.7511del (p.Lys2504fs) rs2147940284
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006031.6(PCNT):c.9700+1G>A rs2148115298
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs) rs2150856163
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter) rs1564039543
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs) rs2469065805
NM_015426.5(POC1A):c.667_668dup (p.Gln223fs) rs2107189610
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_016648.4(LARP7):c.297_303+2del rs2149262033
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer) rs2147618568
NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) rs766719790
NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter) rs2151436426
NM_020800.3(IFT80):c.958-1G>T rs202051267
NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs) rs1232184969
NM_022356.4(P3H1):c.1346-1G>C rs886042897
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6258+1G>T rs587784185
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs) rs753596034
NM_032888.4(COL27A1):c.3294+1G>C rs2135594366
NM_052844.4(DYNC2I2):c.1315_1318del (p.Phe439fs) rs760226714
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter) rs1461050152
NM_152424.4(AMER1):c.1000G>T (p.Glu334Ter) rs2147089265
NM_152424.4(AMER1):c.179_180del (p.Phe60fs) rs2147091121
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_182760.4(SUMF1):c.691dup (p.Trp231fs) rs748337915
NM_182943.3(PLOD2):c.67del (p.Cys23fs) rs2108157679
NM_198239.2(CCN6):c.626_627del (p.Cys209fs) rs2114469138
NM_203486.3(DLL3):c.395del (p.Gly132fs) rs761454301
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899

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