ClinVar Miner

List of variants in gene SLC6A8 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_005629.3(SLC6A8):c.1768-8_1768-7delTC rs782682148
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
NM_005629.4(SLC6A8):c.1184T>C (p.Leu395Pro) rs1557045281
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile) rs1569539415
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=) rs1463546168
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu)
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg)
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726
NM_005629.4(SLC6A8):c.1790C>T (p.Pro597Leu) rs1060502811
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met)
NM_005629.4(SLC6A8):c.1798G>A (p.Gly600Ser) rs1557045828
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met)
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) rs1236176576
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val) rs1198790754
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) rs782040427
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser)
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala)
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val)
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)

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