ClinVar Miner

List of variants reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser) rs782174461 0.00001
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) rs1261794545 0.00001
NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr) rs1238996324 0.00001
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val) rs782598816 0.00001
NM_005629.4(SLC6A8):c.1016+21_1017-42del
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
NM_005629.4(SLC6A8):c.1181C>A (p.Thr394Lys)
NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)
NM_005629.4(SLC6A8):c.1255-35G>A
NM_005629.4(SLC6A8):c.1261G>C (p.Gly421Arg)
NM_005629.4(SLC6A8):c.1381A>G (p.Met461Val)
NM_005629.4(SLC6A8):c.1430C>T (p.Ser477Leu) rs2148364216
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu) rs1463935788
NM_005629.4(SLC6A8):c.1529T>A (p.Met510Lys)
NM_005629.4(SLC6A8):c.1601TCTTCA[1] (p.534IF[1])
NM_005629.4(SLC6A8):c.1629G>A (p.Glu543=)
NM_005629.4(SLC6A8):c.1654G>T (p.Val552Leu)
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_005629.4(SLC6A8):c.1A>G (p.Met1Val)
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.301G>A (p.Gly101Arg)
NM_005629.4(SLC6A8):c.338G>A (p.Gly113Asp)
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005629.4(SLC6A8):c.370T>C (p.Trp124Arg)
NM_005629.4(SLC6A8):c.407C>T (p.Ala136Val)
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del) rs2091455264
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu) rs1057524586
NM_005629.4(SLC6A8):c.644+3_644+6del rs1064795351
NM_005629.4(SLC6A8):c.644+5G>A
NM_005629.4(SLC6A8):c.808G>A (p.Val270Met)
NM_005629.4(SLC6A8):c.880A>C (p.Lys294Gln)
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His) rs1064794836
NM_005629.4(SLC6A8):c.942C>G (p.Phe314Leu)
NM_005629.4(SLC6A8):c.952G>A (p.Ala318Thr)
NM_005629.4(SLC6A8):c.993C>G (p.Asn331Lys)

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