ClinVar Miner

List of variants reported as uncertain significance for lymphatic system disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala) rs201009019 0.00045
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_001291303.3(FAT4):c.10643A>G (p.Tyr3548Cys) rs79726583 0.00015
NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile) rs138389471 0.00013
NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr) rs200702071 0.00011
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe) rs376545643 0.00009
NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser) rs150398575 0.00006
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu) rs756651685 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_001321396.3(IKBKG):c.-16+3G>A rs782367664 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe) rs770685560 0.00002
NM_001291303.3(FAT4):c.8216C>A (p.Ser2739Tyr) rs748854090 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_005045.4(RELN):c.10292G>A (p.Arg3431His) rs1442266027 0.00001
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile) rs372928932 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_006949.4(STXBP2):c.1225C>T (p.Leu409Phe) rs763024326 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) rs756973760 0.00001
NM_000081.4(LYST):c.11167G>T (p.Ala3723Ser)
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
NM_000081.4(LYST):c.2768C>T (p.Ser923Leu)
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu)
NM_000081.4(LYST):c.7647G>A (p.Gln2549=)
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_005045.4(RELN):c.381T>C (p.Ser127=)
NM_005045.4(RELN):c.5211-7T>G rs760447914
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005633.4(SOS1):c.1379A>G (p.His460Arg)
NM_005633.4(SOS1):c.3391+5G>C rs1668654438
NM_006939.4(SOS2):c.2220A>T (p.Gln740His) rs576277421
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_172071.4(RC3H1):c.437T>C (p.Val146Ala)
NM_199242.3(UNC13D):c.1340T>G (p.Leu447Arg) rs1333471306

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