ClinVar Miner

List of variants in gene LOC113960611, SLC12A5 studied for complex neurodevelopmental disorder

Included ClinVar conditions (295):
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.3260-3C>A rs762852631 0.00009
NM_020708.5(SLC12A5):c.3347C>A (p.Ser1116Tyr) rs150192950 0.00009
NM_020708.5(SLC12A5):c.3321C>T (p.Gly1107=) rs1413192522 0.00002
NM_020708.5(SLC12A5):c.3261C>T (p.Tyr1087=) rs2084707675 0.00001
NM_020708.5(SLC12A5):c.3325C>T (p.Arg1109Cys) rs1568870063 0.00001
NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=) rs1394912099 0.00001
NM_020708.5(SLC12A5):c.3260-3C>G
NM_020708.5(SLC12A5):c.3260-9G>C rs371575101
NM_020708.5(SLC12A5):c.3267G>T (p.Glu1089Asp) rs374697509
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) rs1555868402
NM_020708.5(SLC12A5):c.3285A>T (p.Thr1095=) rs2145509644
NM_020708.5(SLC12A5):c.3288G>A (p.Glu1096=)
NM_020708.5(SLC12A5):c.3294G>A (p.Leu1098=)
NM_020708.5(SLC12A5):c.3300G>C (p.Arg1100=)
NM_020708.5(SLC12A5):c.3304A>T (p.Met1102Leu) rs2084707984
NM_020708.5(SLC12A5):c.3342C>T (p.Ile1114=) rs2145509716
NM_020708.5(SLC12A5):c.3348C>A (p.Ser1116=)

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