ClinVar Miner

Variants in gene NSDHL with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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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.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.1108C>T (p.Arg370Trp) rs151248633
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

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