ClinVar Miner

List of variants in gene SLC35A3 reported as uncertain significance for arthrogryposis syndrome

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_012243.3(SLC35A3):c.933G>A (p.Leu311=) rs139479346 0.00034
NM_012243.3(SLC35A3):c.599C>G (p.Thr200Arg) rs759966591 0.00019
NM_012243.3(SLC35A3):c.409G>A (p.Gly137Ser) rs764989689 0.00005
NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe) rs137902416 0.00004
NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr) rs775651587 0.00003
NM_012243.3(SLC35A3):c.543A>T (p.Thr181=) rs746093643 0.00003
NM_012243.3(SLC35A3):c.347C>T (p.Thr116Met) rs774263178 0.00002
NM_012243.3(SLC35A3):c.74G>A (p.Arg25His) rs903783945 0.00002
NM_012243.3(SLC35A3):c.753+8A>G rs781326156 0.00002
NM_012243.3(SLC35A3):c.107G>A (p.Arg36His) rs747574982 0.00001
NM_012243.3(SLC35A3):c.187+5G>A rs1327580386 0.00001
NM_012243.3(SLC35A3):c.329C>G (p.Ala110Gly) rs1157464372 0.00001
NM_012243.3(SLC35A3):c.405A>C (p.Lys135Asn) rs754559092 0.00001
NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile) rs1392040093 0.00001
NM_012243.3(SLC35A3):c.44T>C (p.Phe15Ser) rs951750313 0.00001
NM_012243.3(SLC35A3):c.452T>A (p.Val151Asp) rs1415934934 0.00001
NM_012243.3(SLC35A3):c.470C>T (p.Pro157Leu) rs890225731 0.00001
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=) rs370227291 0.00001
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=) rs745545998 0.00001
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys) rs753997682 0.00001
NM_012243.3(SLC35A3):c.754-3C>T rs752607628 0.00001
NC_000001.10:g.(?_100472580)_(100472722_?)del
NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr) rs1199734991
NM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr) rs1658214274
NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr) rs1658606601
NM_012243.3(SLC35A3):c.194G>T (p.Ser65Ile) rs1658606953
NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala)
NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu)
NM_012243.3(SLC35A3):c.328G>A (p.Ala110Thr) rs1658616708
NM_012243.3(SLC35A3):c.342+4C>T rs1658617673
NM_012243.3(SLC35A3):c.477T>G (p.Asp159Glu)
NM_012243.3(SLC35A3):c.49A>G (p.Thr17Ala) rs1334259370
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=) rs1282648211
NM_012243.3(SLC35A3):c.548G>A (p.Cys183Tyr) rs1184691007
NM_012243.3(SLC35A3):c.635-3del rs766308423
NM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp) rs1557844477
NM_012243.3(SLC35A3):c.725G>A (p.Arg242Gln) rs760633616
NM_012243.3(SLC35A3):c.736A>G (p.Ile246Val)
NM_012243.3(SLC35A3):c.738A>G (p.Ile246Met)
NM_012243.3(SLC35A3):c.753G>A (p.Gln251=) rs1660027769
NM_012243.3(SLC35A3):c.754-1G>T
NM_012243.3(SLC35A3):c.76T>A (p.Tyr26Asn)
NM_012243.3(SLC35A3):c.778G>C (p.Ala260Pro) rs1557846118
NM_012243.3(SLC35A3):c.796G>T (p.Asp266Tyr)
NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs)
NM_012243.3(SLC35A3):c.827T>C (p.Leu276Ser) rs1553204431
NM_012243.3(SLC35A3):c.887G>A (p.Ser296Asn) rs1310530690
NM_012243.3(SLC35A3):c.888-10T>A rs750539187
NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del)
NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu) rs1553205151

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