ClinVar Miner

List of variants studied for Gabriele de Vries syndrome

Included ClinVar conditions (1):
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Total variants: 33
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 14q32.2(chr14:100317190-101012999)
NM_003403.5(YY1):c.-5C>T rs1465024541
NM_003403.5(YY1):c.1025G>A (p.Arg342Gln)
NM_003403.5(YY1):c.1030C>T (p.Gln344Ter) rs1131692045
NM_003403.5(YY1):c.1032A>G (p.Gln344=) rs1891321521
NM_003403.5(YY1):c.1036G>T (p.Val346Phe)
NM_003403.5(YY1):c.1057T>C (p.Phe353Leu)
NM_003403.5(YY1):c.1062+1G>A rs2139604254
NM_003403.5(YY1):c.1062G>A (p.Gln354=)
NM_003403.5(YY1):c.1096C>G (p.Leu366Val) rs1131692044
NM_003403.5(YY1):c.1097T>C (p.Leu366Pro) rs1131692163
NM_003403.5(YY1):c.1102T>C (p.Phe368Leu)
NM_003403.5(YY1):c.1106A>G (p.Asn369Ser) rs2139605753
NM_003403.5(YY1):c.1112G>A (p.Arg371His)
NM_003403.5(YY1):c.1118A>G (p.His373Arg) rs1891340236
NM_003403.5(YY1):c.1121T>G (p.Val374Gly) rs2139605785
NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr) rs1131692043
NM_003403.5(YY1):c.1192A>G (p.Thr398Ala)
NM_003403.5(YY1):c.166G>A (p.Gly56Ser)
NM_003403.5(YY1):c.168_185del (p.Asp58_Gly63del)
NM_003403.5(YY1):c.188G>A (p.Gly63Asp)
NM_003403.5(YY1):c.194A>G (p.His65Arg)
NM_003403.5(YY1):c.202G>A (p.Ala68Thr) rs1246486173
NM_003403.5(YY1):c.207CCA[7] (p.His80dup) rs76675246
NM_003403.5(YY1):c.430G>A (p.Asp144Asn) rs770164761
NM_003403.5(YY1):c.458_476del (p.Val153fs)
NM_003403.5(YY1):c.487G>A (p.Gly163Ser)
NM_003403.5(YY1):c.514G>T (p.Val172Phe) rs2139560677
NM_003403.5(YY1):c.527G>A (p.Gly176Asp) rs1890697895
NM_003403.5(YY1):c.535A>T (p.Lys179Ter) rs1131692046
NM_003403.5(YY1):c.562G>A (p.Gly188Ser) rs1890698987
NM_003403.5(YY1):c.608A>G (p.Lys203Arg) rs1890700748
NM_003403.5(YY1):c.690del (p.Asp231fs) rs759536629

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