ClinVar Miner

List of variants studied for mucopolysaccharidosis type 4A by Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1139+2T>C
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.121-2_121-1insTGCATTTGCTGGCATA
NM_000512.5(GALNS):c.121-338_244+1del
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys) rs886042058
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.898+2T>A

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