ClinVar Miner

List of variants in gene NSDHL reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) rs375100066 0.00051
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_015922.3(NSDHL):c.1020C>T (p.Cys340=) rs376794048 0.00008
NM_015922.3(NSDHL):c.1108C>T (p.Arg370Trp) rs151248633
NM_015922.3(NSDHL):c.208C>T (p.Gln70Ter) rs1933337210
NM_015922.3(NSDHL):c.71A>G (p.Lys24Arg)
NM_015922.3(NSDHL):c.816C>A (p.Pro272=) rs1328593149
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078
NM_015922.3(NSDHL):c.914T>G (p.Leu305Arg)

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