ClinVar Miner

List of variants in gene IDS reported by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.103G>C (p.Asp35His) rs2089514224
NM_000202.8(IDS):c.104-1_104delinsT rs2089505743
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.1191del (p.Met398fs) rs2089308367
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs) rs2089308167
NM_000202.8(IDS):c.1221del (p.Thr409fs) rs2089308131
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter) rs2089307950
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs) rs2089307879
NM_000202.8(IDS):c.133del (p.Asp45fs) rs2089504895
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter) rs2089306573
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs) rs2089306333
NM_000202.8(IDS):c.136G>A (p.Asp46Asn) rs2089504816
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del) rs2089305217
NM_000202.8(IDS):c.1431del (p.Asp478fs) rs2089305275
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs) rs2089305109
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA rs2089503537
NM_000202.8(IDS):c.241-9C>G rs2089497858
NM_000202.8(IDS):c.248del (p.Val83fs) rs2089497718
NM_000202.8(IDS):c.283A>T (p.Arg95Trp) rs2089497268
NM_000202.8(IDS):c.305del (p.Leu102fs) rs2089496744
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp) rs2089496667
NM_000202.8(IDS):c.403A>G (p.Lys135Glu) rs2089495673
NM_000202.8(IDS):c.[1411G>C;1418C>T]

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