ClinVar Miner

List of variants reported as uncertain significance by Yale Center for Mendelian Genomics, Yale University

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ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) rs35538872 0.00419
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_005215.4(DCC):c.1409G>A (p.Gly470Asp) rs141813053 0.00296
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) rs137900287 0.00268
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg) rs4561948 0.00163
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_032551.5(KISS1R):c.890G>T (p.Arg297Leu) rs144670595 0.00046
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303 0.00037
NM_005215.4(DCC):c.2455G>A (p.Asp819Asn) rs181197485 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_006901.4(MYO9A):c.467A>G (p.Asp156Gly) rs190194477 0.00018
NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser) rs141313736 0.00017
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NM_003106.4(SOX2):c.64G>A (p.Gly22Ser) rs727504169 0.00014
NM_001378457.1(DMXL2):c.1427C>G (p.Thr476Ser) rs757537450 0.00013
NM_006901.4(MYO9A):c.2295G>C (p.Glu765Asp) rs147776325 0.00011
NM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro) rs561681709 0.00009
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val) rs772129232 0.00006
NM_005560.6(LAMA5):c.2239C>T (p.Arg747Trp) rs370940497 0.00006
NM_018082.6(POLR3B):c.2932C>T (p.Arg978Cys) rs747972980 0.00006
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) rs140568070 0.00004
NM_005560.6(LAMA5):c.8842G>A (p.Gly2948Ser) rs529211517 0.00004
NM_001059.3(TACR3):c.743A>G (p.His248Arg) rs1374236686 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317 0.00003
NM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg) rs201184458 0.00002
NM_001127496.3(SPRY4):c.206G>T (p.Gly69Val) rs751651003 0.00002
NM_182699.4(DDX53):c.24G>A (p.Trp8Ter) rs1176788381 0.00002
NM_198391.3(FLRT3):c.1202A>T (p.Gln401Leu) rs367908011 0.00002
NM_000216.4(ANOS1):c.1111G>A (p.Val371Ile) rs1490275516 0.00001
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu) rs745561217 0.00001
NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu) rs757972971 0.00001
NM_004795.4(KL):c.2534T>G (p.Val845Gly) rs1167677876 0.00001
NM_004958.4(MTOR):c.5345A>G (p.His1782Arg) rs767448054 0.00001
NM_005215.4(DCC):c.2647G>A (p.Val883Ile) rs187939463 0.00001
NM_006901.4(MYO9A):c.1166C>T (p.Thr389Met) rs745456369 0.00001
NM_012233.3(RAB3GAP1):c.2840G>A (p.Arg947His) rs756956146 0.00001
NM_018082.6(POLR3B):c.2161A>T (p.Lys721Ter) rs374359855 0.00001
NM_018117.12(WDR11):c.16G>A (p.Val6Met) rs780739420 0.00001
NM_018706.7(DHTKD1):c.886G>A (p.Val296Met) rs763791918 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_175737.4(KLB):c.2723G>T (p.Gly908Val) rs1487572959 0.00001
NM_175737.4(KLB):c.505G>A (p.Ala169Thr) rs560220050 0.00001
NC_000005.9:g.170591818_170713790dup
NC_000005.9:g.170814836_171100000dup
NC_000005.9:g.172068277_172342131dup
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) rs104893840
NM_001029858.4(SLC35F1):c.878T>G (p.Met293Arg) rs1304499333
NM_001035235.4(SRA1):c.293_294del (p.Val98fs) rs1491190229
NM_001126128.2(PROK2):c.181A>G (p.Met61Val) rs1282942039
NM_001904.4(CTNNB1):c.160G>T (p.Glu54Ter) rs2078133150
NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val) rs2143738378
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe) rs550750241
NM_004304.5(ALK):c.3243C>G (p.Ser1081Arg) rs1669864463
NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter) rs2148143597
NM_005343.4(HRAS):c.100C>T (p.Pro34Ser) rs1348427922
NM_005343.4(HRAS):c.44G>A (p.Gly15Asp) rs1554885139
NM_005560.6(LAMA5):c.3002A>G (p.Glu1001Gly) rs1601356283
NM_006009.4(TUBA1A):c.1222T>G (p.Tyr408Asp) rs2121241414
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) rs1057521063
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.4(SPAST):c.1483G>C (p.Ala495Pro) rs1060502228
NM_015419.4(MXRA5):c.204_205insT (p.Ala69fs) rs2146928273
NM_015915.5(ATL1):c.1049C>T (p.Ala350Val) rs2140234783
NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln) rs1595625104
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro) rs1553433412
NM_016338.5(IPO11):c.-6-1400_138+1704dup
NM_017780.4(CHD7):c.5114C>A (p.Pro1705Gln) rs373986410
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) rs1555331969
NM_018180.3(DHX32):c.683A>G (p.Tyr228Cys) rs2134053537
NM_018180.3(DHX32):c.798T>G (p.Ile266Met) rs2134053360
NM_018714.3(COG1):c.1070+5G>A rs1568296260
NM_021913.5(AXL):c.874del (p.His292fs) rs778012871
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.779G>A (p.Gly260Glu) rs2150824695
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser) rs2122203627
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) rs914930539
NM_178138.6(LHX3):c.934G>A (p.Gly312Ser) rs866451680

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