ClinVar Miner

List of variants in gene combination LOC126860469, ZFPM2 reported as uncertain significance for 46,XY partial gonadal dysgenesis

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) rs201707218 0.00029
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00024
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) rs371546027 0.00008
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) rs367893066 0.00006
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) rs753602172 0.00004
NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met) rs530517993 0.00003
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) rs201644250 0.00003
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) rs374095734 0.00002
NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg) rs544936088 0.00002
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) rs747995106 0.00002
NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu) rs747010827 0.00002
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) rs778808844 0.00001
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) rs908430101 0.00001
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) rs759084301 0.00001
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) rs779361639 0.00001
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) rs1554583195
NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)
NM_012082.4(ZFPM2):c.2189A>G (p.Gln730Arg)
NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) rs757882709
NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) rs2131180275
NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) rs1563574497
NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)
NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)
NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly) rs2131181158
NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)
NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser) rs771987459
NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)
NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)
NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) rs1814096724
NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)
NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) rs149688628
NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)
NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) rs1554583419

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