ClinVar Miner

List of variants in gene AVPR2 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.1113G>A (p.Ser371=) rs5203 0.01072
NM_000054.7(AVPR2):c.12G>A (p.Ala4=) rs61748993 0.00449
NM_000054.7(AVPR2):c.105G>A (p.Leu35=) rs5197 0.00133
NM_000054.7(AVPR2):c.117G>A (p.Ala39=) rs374487946 0.00061
NM_000054.7(AVPR2):c.189T>C (p.Ala63=) rs140156037 0.00053
NM_000054.7(AVPR2):c.441G>A (p.Ala147=) rs143055328 0.00049
NM_000054.7(AVPR2):c.252C>T (p.Ala84=) rs370880911 0.00027
NM_000054.7(AVPR2):c.474G>A (p.Arg158=) rs368544649 0.00011
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser) rs143480277 0.00009
NM_000054.7(AVPR2):c.1010G>A (p.Arg337Gln) rs782160409 0.00007
NM_000054.7(AVPR2):c.663C>T (p.Ile221=) rs13306212 0.00005
NM_000054.7(AVPR2):c.359T>C (p.Met120Thr) rs782323704 0.00001
NM_000054.7(AVPR2):c.445C>T (p.Arg149Cys) rs905300222 0.00001
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507 0.00001
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg) rs1557100711
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) rs193922118

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