ClinVar Miner

List of variants studied for leukopenia by Mendelics

Included ClinVar conditions (54):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) rs28936382 0.00004
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_152564.5(VPS13B):c.1079del (p.Asp360fs) rs767518464 0.00002
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.7229+50CTTTT[7] rs71174459
NM_000377.3(WAS):c.1058del (p.Pro353fs) rs1557007165
NM_000377.3(WAS):c.190T>C (p.Trp64Arg) rs2147262851
NM_000377.3(WAS):c.734+5G>A rs1602178267
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) rs2145144144
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro) rs797045007
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) rs797045009
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) rs137854446
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) rs1599294750
NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter) rs104893626
NM_005263.5(GFI1):c.-100+686C>A rs1018517928
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-2_9331-1del rs764288792
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525

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