ClinVar Miner

List of variants in gene NSDHL reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
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.750G>A (p.Ala250=) rs141068024 0.00201
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.1020C>T (p.Cys340=) rs376794048 0.00008
NM_015922.3(NSDHL):c.1086C>T (p.Thr362=) rs782463366 0.00004
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser) rs782376691 0.00001
NM_015922.3(NSDHL):c.658A>G (p.Arg220Gly) rs782454035 0.00001
NM_015922.3(NSDHL):c.790-5G>A rs377291339 0.00001
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904T>C (p.Tyr302His) rs782181497
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226

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