ClinVar Miner

List of variants in gene AVPR2 reported as uncertain significance for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000054.6(AVPR2):c.*119G>A rs782425427
NM_000054.6(AVPR2):c.*129C>T rs782022257
NM_000054.6(AVPR2):c.*136T>G rs782141948
NM_000054.6(AVPR2):c.*190A>C
NM_000054.6(AVPR2):c.*282G>A rs782404692
NM_000054.6(AVPR2):c.-48G>C rs782204150
NM_000054.6(AVPR2):c.191_199GGCGGGGCC[1] (p.64_66RRG[1]) rs782292545
NM_000054.6(AVPR2):c.69C>T (p.Ser23=) rs377144623
NM_000054.6(AVPR2):c.744_755del (p.Arg249_Arg252del) rs782681085
NM_000054.6(AVPR2):c.784G>A (p.Val262Met) rs1557100878
NM_000054.6(AVPR2):c.81G>T (p.Arg27Ser)
NM_000054.6(AVPR2):c.837C>G (p.Val279=)
NM_000054.6(AVPR2):c.886T>C (p.Trp296Arg) rs886041110

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