ClinVar Miner

List of variants studied for Factor XII deficiency disease by Illumina Laboratory Services, Illumina

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_000505.4(F12):c.711C>T (p.Pro237=) rs17876047 0.02352
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000505.4(F12):c.756C>T (p.Ala252=) rs41309752 0.01977
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000505.4(F12):c.930G>C (p.Arg310Ser) rs77098327 0.00359
NC_000005.10:g.177409584C>G rs41309132 0.00297
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000505.4(F12):c.1018+13G>C rs552424629 0.00239
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000505.4(F12):c.1018+12G>C rs758462343 0.00082
NM_000505.4(F12):c.348C>A (p.Gly116=) rs140243617 0.00081
NM_000505.4(F12):c.120C>T (p.Leu40=) rs149368999 0.00073
NM_000505.4(F12):c.1107G>C (p.Ser369=) rs141473119 0.00063
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_000505.4(F12):c.1387+4C>G rs761161412 0.00014
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_000505.4(F12):c.-3G>A rs201346142 0.00011
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_000505.4(F12):c.1212C>G (p.Pro404=) rs756802257 0.00005
NM_000505.4(F12):c.129C>T (p.Thr43=) rs201546796 0.00004
NM_000505.4(F12):c.1018+14G>T rs779057710 0.00003
NM_000505.4(F12):c.1251-12C>A rs747726864 0.00003
NM_000505.4(F12):c.1704G>A (p.Val568=) rs536390950 0.00003
NM_000505.4(F12):c.630C>T (p.Asp210=) rs886060471 0.00003
NM_000505.4(F12):c.928A>T (p.Arg310Trp) rs749549919 0.00003
NM_000505.4(F12):c.*86C>T rs777897437 0.00001
NM_000505.4(F12):c.*9G>A rs1763150862 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) rs770412757 0.00001
NM_000505.4(F12):c.30G>A (p.Leu10=) rs745617919 0.00001
NM_000505.4(F12):c.-25G>A rs886060472
NM_000505.4(F12):c.1018+11G>T rs570973405
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1142G>A (p.Arg381His) rs1763214147
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000505.4(F12):c.1251-9C>A rs17876032
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_000505.4(F12):c.286+6A>G rs1763273226
NM_000505.4(F12):c.957G>C (p.Gln319His) rs1763225226

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