ClinVar Miner

List of variants in gene NIN reported as uncertain significance for Seckel syndrome 7

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020921.4(NIN):c.6275C>T (p.Thr2092Ile) rs201013063 0.00017
NM_020921.4(NIN):c.349G>A (p.Val117Met) rs374373270 0.00002
NM_020921.4(NIN):c.3026G>A (p.Ser1009Asn) rs866350711
NM_020921.4(NIN):c.5302G>T (p.Val1768Phe) rs151233126
NM_020921.4(NIN):c.5781_5784del (p.Ser1927fs)
NM_020921.4(NIN):c.5830G>A (p.Glu1944Lys)
NM_020921.4(NIN):c.5912C>A (p.Pro1971Gln) rs200441923

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