ClinVar Miner

List of variants studied for lymphoid system disorder by New York Genome Center

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys) rs754928609 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val) rs202046984 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_004523.4(KIF11):c.2018A>T (p.Lys673Met) rs1235363221 0.00006
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr) rs771633331 0.00006
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys) rs750033860 0.00004
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser) rs779002595 0.00004
NM_005045.4(RELN):c.8051G>A (p.Arg2684His) rs201157987 0.00004
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys) rs151000791 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg) rs370528448 0.00003
NM_199242.3(UNC13D):c.514C>T (p.Arg172Cys) rs560126604 0.00003
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_000081.4(LYST):c.1637G>A (p.Arg546Gln) rs751609899 0.00001
NM_000081.4(LYST):c.2330A>G (p.Tyr777Cys) rs367688184 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_004523.4(KIF11):c.1823T>C (p.Leu608Pro) rs535517017 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly) rs779464455 0.00001
NM_006939.4(SOS2):c.2843A>G (p.Lys948Arg) rs758960743 0.00001
NC_000003.12:g.12589035_12766981dup
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_001142864.4(PIEZO1):c.3154C>T (p.Gln1052Ter)
NM_001142864.4(PIEZO1):c.4955+1G>A
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_005251.3(FOXC2):c.1105dup (p.Leu369fs)
NM_005633.4(SOS1):c.1074+1966C>G rs2124558711
NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg) rs2124479522
NM_005633.4(SOS1):c.541G>A (p.Glu181Lys) rs1671148501
NM_005633.4(SOS1):c.743G>T (p.Arg248Leu) rs775052125
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.895_898del (p.Phe299fs) rs1924613524
NM_006939.4(SOS2):c.*234G>A rs2139461520
NM_006939.4(SOS2):c.164T>C (p.Leu55Pro) rs2139796125
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643
Single allele

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