ClinVar Miner

List of variants in gene PREPL, SLC3A1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 17
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HGVS dbSNP
NC_000002.11:g.(?_44507835)_(44573549_?)del
NM_000341.4(SLC3A1):c.*100T>C rs886056074
NM_000341.4(SLC3A1):c.*131T>C rs8886
NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn) rs886056071
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=) rs148703534
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly) rs886056072
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=) rs142141929
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=) rs770801300
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr) rs121912696
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del) rs886056073
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg) rs121912695
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) rs370262167
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro) rs121912693

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