ClinVar Miner

List of variants studied for hematologic disorder by Pars Genome Lab

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000289.6(PFKM):c.428-39G>A rs2269933 0.29774
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_000289.6(PFKM):c.639-85T>C rs2286020 0.19143
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_000289.6(PFKM):c.-8-86G>T rs2269935 0.16268
NM_000289.6(PFKM):c.427+52G>A rs41291961 0.06210
NM_000289.6(PFKM):c.1880+32G>C rs4075914 0.06152
NM_000289.6(PFKM):c.237+73G>T rs78042191 0.01997
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala) rs763768429 0.00001
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513

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