ClinVar Miner

List of variants reported as likely benign for Menkes disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NG_013224.2:g.(?_4960)_(103567_105489)dup
NM_000052.6(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.6(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.6(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.6(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.6(ATP7A):c.2172+7G>T rs782433802
NM_000052.6(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.6(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.6(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.6(ATP7A):c.2499-9T>C rs1557235070
NM_000052.6(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.6(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.6(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.6(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.6(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.6(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064
NM_000052.6(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.6(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.6(ATP7A):c.4226+9G>A rs1557239012
NM_000052.6(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.6(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.6(ATP7A):c.922A>G (p.Ile308Val) rs782351352

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