ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Natera, Inc.

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln) rs144190241
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=) rs201390270
NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)
NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=) rs1555532936
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=) rs61757681
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688
NM_000382.3(ALDH3A2):c.798+1del
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)
NM_182760.4(SUMF1):c.444+4A>C
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808
NM_182760.4(SUMF1):c.602+10G>T
NM_182760.4(SUMF1):c.602+1G>A
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala)
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile)
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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