ClinVar Miner

List of variants studied for MPDU1-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) rs10852891 0.14975
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808 0.03297
NM_004870.4(MPDU1):c.618+14C>T rs11078699 0.00407
NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys) rs147742866 0.00227
NM_004870.4(MPDU1):c.393C>T (p.Val131=) rs79286384 0.00178
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) rs139686892 0.00044
NM_004870.4(MPDU1):c.338C>T (p.Thr113Met) rs141320993 0.00034
NM_004870.4(MPDU1):c.537C>T (p.Asn179=) rs149675859 0.00029
NM_004870.4(MPDU1):c.636G>C (p.Leu212=) rs148586387 0.00007
NM_004870.4(MPDU1):c.12G>A (p.Glu4=) rs146631664 0.00006
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) rs142551371 0.00005
NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr) rs200909635 0.00004
NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg) rs775877177 0.00004
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) rs199498675 0.00002
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_004870.4(MPDU1):c.672C>T (p.Asn224=) rs535356783 0.00002
NM_004870.4(MPDU1):c.103+19C>T rs1320410758 0.00001
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys) rs772047932 0.00001
NM_004870.4(MPDU1):c.184G>A (p.Val62Met) rs777819415 0.00001
NM_004870.4(MPDU1):c.303-16A>G rs566030367 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln) rs200077070 0.00001
NM_004870.4(MPDU1):c.648C>T (p.Thr216=) rs760109502 0.00001
NM_004870.4(MPDU1):c.170-1G>A
NM_004870.4(MPDU1):c.303-9A>G rs763924892
NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr) rs137983973
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
NM_004870.4(MPDU1):c.468G>A (p.Leu156=)
NM_004870.4(MPDU1):c.477del (p.Ser160fs) rs765585873
NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu) rs2071599921
NM_004870.4(MPDU1):c.582T>C (p.Phe194=) rs763418089
NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)
NM_004870.4(MPDU1):c.591C>G (p.Ser197=) rs2150936245
NM_004870.4(MPDU1):c.619-17C>G
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala) rs2150936424
NM_004870.4(MPDU1):c.729G>C (p.Gln243His) rs144333176

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