ClinVar Miner

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

Included ClinVar conditions (274):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp) rs28935496 0.00001
NM_000054.7(AVPR2):c.410G>A (p.Arg137His) rs104894756 0.00001
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.7(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.7(AVPR2):c.24del (p.Ala9fs) rs1557100304
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe) rs796052096
NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp) rs104894747
NM_000054.7(AVPR2):c.468G>A (p.Trp156Ter)
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp) rs104894755
NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys) rs104894749
NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs) rs2148514762
NM_000054.7(AVPR2):c.738del (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.738dup (p.Arg247fs) rs781942628
NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer) rs193922119
NM_000054.7(AVPR2):c.809_810del (p.Val270fs) rs2064966689
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del) rs2064967091
NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter) rs1064797077
NM_000054.7(AVPR2):c.966del (p.Trp323fs) rs886040961

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