ClinVar Miner

List of variants studied for Mayer-Rokitansky-Kuster-Hauser syndrome type 1

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys) rs185578147 0.00319
NM_001013631.3(HNRNPCL1):c.764del (p.Asp255fs) rs767679031 0.00010
NM_001142966.3(GREB1L):c.1852G>A (p.Asp618Asn) rs1382939744 0.00004
NM_001142966.3(GREB1L):c.1936T>C (p.Cys646Arg) rs2034559099 0.00001
NM_001142966.3(GREB1L):c.2312C>T (p.Pro771Leu) rs1434821638 0.00001
NM_001142966.3(GREB1L):c.3983G>A (p.Gly1328Asp) rs1176010371 0.00001
NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys) rs1308452766 0.00001
GRCh37/hg19 16p11.2(chr16:29567295-30177916)
GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207)
NM_001142966.3(GREB1L):c.2227del (p.Gln743fs) rs2035545895
NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg)
NM_001142966.3(GREB1L):c.2787_2788del (p.Asp930fs) rs2036272504
NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln)
NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn)
NM_001142966.3(GREB1L):c.3146+1G>A
NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln)
NM_001142966.3(GREB1L):c.3492G>T (p.Gly1164=) rs1397674356
NM_001142966.3(GREB1L):c.3970-20A>G rs1353636049
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) rs2146025908
NM_001142966.3(GREB1L):c.5198A>G (p.Asn1733Ser) rs2037428972
NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln)
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) rs1334778982

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