ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 11
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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

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