ClinVar Miner

List of variants reported as uncertain significance for 46,XY sex reversal 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003140.3(SRY):c.251G>C (p.Arg84Thr) rs770778716 0.00001
NC_000024.10:g.2787734C>T rs2124486449
NC_000024.9:g.(?_2654792)_(2655895_?)dup
NM_003140.3(SRY):c.226C>T (p.Arg76Cys) rs2124486234
NM_003140.3(SRY):c.248C>A (p.Pro83His) rs2051123246
NM_003140.3(SRY):c.253A>G (p.Met85Val) rs2124486176
NM_003140.3(SRY):c.272G>A (p.Ser91Asn)
NM_003140.3(SRY):c.321G>T (p.Trp107Cys) rs2051122910
NM_003140.3(SRY):c.472C>T (p.Gln158Ter)
NM_003140.3(SRY):c.570del (p.Ser191fs) rs1603308285
NM_003140.3(SRY):c.589C>A (p.Arg197Ser) rs756606002

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