ClinVar Miner

Variants in gene TRPM1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met) rs61734295 0.00844
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001252024.2(TRPM1):c.2991C>T (p.Val997=) rs115529590 0.00272
NM_001252024.2(TRPM1):c.1573-10T>C rs202224865 0.00162
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=) rs200934141 0.00157
NM_001252020.2(TRPM1):c.27C>T (p.Leu9=) rs367857294 0.00145
NM_001252024.2(TRPM1):c.4502G>A (p.Arg1501His) rs111649153 0.00053
NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=) rs138216783 0.00045
NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=) rs202130526 0.00027
NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=) rs185129255 0.00017
NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=) rs143866050 0.00016
NM_001252024.2(TRPM1):c.258C>T (p.Gly86=) rs201162331 0.00009
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr) rs374376006 0.00004
NM_001252024.2(TRPM1):c.4671G>A (p.Leu1557=) rs558497596 0.00001
NM_001252024.2(TRPM1):c.2088-3dup
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001252024.2(TRPM1):c.3907G>A (p.Glu1303Lys) rs117855013
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys) rs3784587
NM_001252024.2(TRPM1):c.4452G>C (p.Thr1484=) rs16956430

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