ClinVar Miner

List of variants studied 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: 31
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr) rs148979792 0.00710
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_000359.3(TGM1):c.920G>A (p.Arg307Gln) rs146770534 0.00155
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
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.420A>G (p.Ile140Met) rs139208806 0.00008
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_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.772G>A (p.Val258Met) rs771471341
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_000423.3(KRT2):c.303_304insGGC (p.Ser101_Phe102insGly) rs56850150
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp) rs201542666

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