ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive congenital ichthyosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys) rs199846944 0.00019
NM_000359.3(TGM1):c.100C>T (p.Arg34Cys) rs149148326 0.00010
NM_000359.3(TGM1):c.2029G>A (p.Gly677Arg) rs758380663 0.00010
NM_000359.3(TGM1):c.604G>A (p.Gly202Arg) rs141685762 0.00007
NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu) rs181314573 0.00007
NM_000359.3(TGM1):c.418A>G (p.Ile140Val) rs149923908 0.00004
NM_000359.3(TGM1):c.772G>A (p.Val258Met) rs771471341

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