ClinVar Miner

List of variants in gene NIN studied for Seckel syndrome

Included ClinVar conditions (17):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_020921.4(NIN):c.933G>C (p.Leu311=) rs8020503 0.99252
NM_020921.4(NIN):c.5628+5T>C rs3015485 0.99236
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro) rs12882191 0.79682
NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu) rs2073347 0.78250
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.56301
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.52775
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_020921.4(NIN):c.6192+12C>T rs1983764 0.27302
NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala) rs2236316 0.20068
NM_020921.4(NIN):c.1775-26G>C rs12883882 0.19247
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_020921.4(NIN):c.1728G>A (p.Pro576=) rs61755036 0.01477
NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp) rs77959782 0.01304
NM_020921.4(NIN):c.6275C>T (p.Thr2092Ile) rs201013063 0.00017
NM_020921.4(NIN):c.3665A>G (p.Gln1222Arg) rs187464517 0.00011
NM_020921.4(NIN):c.5275T>C (p.Ser1759Pro) rs201212734 0.00003
NM_020921.4(NIN):c.6115C>T (p.Arg2039Ter) rs373844676 0.00003
NM_020921.4(NIN):c.349G>A (p.Val117Met) rs374373270 0.00002
NM_020921.4(NIN):c.2482del (p.Arg828fs) rs747680111 0.00001
NM_020921.4(NIN):c.4343A>T (p.Gln1448Leu) rs1440591707 0.00001
NM_020921.4(NIN):c.6079-1686G>A rs1310109020 0.00001
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
NM_020921.4(NIN):c.5995C>T (p.Arg1999Cys)

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