ClinVar Miner

Variants in gene NSDHL 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: 18
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HGVS dbSNP gnomAD frequency
NM_015922.3(NSDHL):c.942C>T (p.Ile314=) rs35375481 0.00841
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894 0.00457
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_015922.3(NSDHL):c.267+7G>A rs184536370 0.00088
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys) rs200930841 0.00053
NM_015922.3(NSDHL):c.1109G>A (p.Arg370Gln) rs140430695 0.00045
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_015922.3(NSDHL):c.283C>G (p.Leu95Val) rs138562213 0.00025
NM_015922.3(NSDHL):c.592A>C (p.Ile198Leu) rs143684465 0.00019
NM_015922.3(NSDHL):c.1073C>G (p.Ala358Gly) rs781870778 0.00001
NM_015922.3(NSDHL):c.790-5G>A rs377291339 0.00001
NM_015922.3(NSDHL):c.1087G>A (p.Val363Met)
NM_015922.3(NSDHL):c.1099C>T (p.Arg367Cys)
NM_015922.3(NSDHL):c.1108C>T (p.Arg370Trp) rs151248633
NM_015922.3(NSDHL):c.233T>C (p.Val78Ala)
NM_015922.3(NSDHL):c.83A>G (p.Asp28Gly)
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078

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