ClinVar Miner

List of variants studied for immune system disorder by Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr) rs759950370 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.1054del (p.Glu352fs) rs1847952502
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly) rs1242180535
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1101del (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His) rs1848014133
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp) rs34555120
NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) rs1848042860
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr) rs1848060631
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg) rs1848060729
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly) rs182812968
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His) rs1848079553
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr) rs764772735
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile) rs752679988
NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter) rs1848088118
NM_000543.5(SMPD1):c.1660G>C (p.Ala554Pro) rs758811926
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg) rs1848099174
NM_000543.5(SMPD1):c.199dup (p.Gln67fs) rs1847871015
NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) rs1847871996
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro) rs1847878243
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg) rs1369175943
NM_000543.5(SMPD1):c.499del (p.Cys167fs) rs1847910379
NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) rs1590738506
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) rs1847857299
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn) rs1847921260
NM_000543.5(SMPD1):c.625del (p.Leu209fs) rs1847921591
NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter) rs1847921909
NM_000543.5(SMPD1):c.634G>C (p.Asp212His) rs772889728
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg) rs1847929817
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro) rs1847932355
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys) rs1847934777
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg) rs1847939431
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro) rs1847940504
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser) rs757934797
NM_000543.5(SMPD1):c.996dup (p.Phe333fs) rs387906289

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