ClinVar Miner

List of variants studied for lymphangioma

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005401.5(PTPN14):c.-26G>A rs10864100 0.83031
NM_005401.5(PTPN14):c.2688+26C>T rs3013451 0.82386
NM_005401.5(PTPN14):c.978A>G (p.Arg326=) rs7550799 0.82382
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=) rs1135352 0.81332
NM_005401.5(PTPN14):c.758+5T>G rs11580603 0.37880
NM_005401.5(PTPN14):c.*26G>A rs2291831 0.15689
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
46;XX;t(6;17)(q13;q21)dn
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1
NM_001142864.4(PIEZO1):c.5040C>A (p.Tyr1680Ter)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_005401.5(PTPN14):c.*6320C>T
NM_005401.5(PTPN14):c.-154-22749A>G
NM_005401.5(PTPN14):c.-154-42562G>A
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
NM_005401.5(PTPN14):c.1583C>T (p.Pro528Leu)
NM_005401.5(PTPN14):c.1754A>C (p.His585Pro)
NM_005401.5(PTPN14):c.1882C>G (p.Leu628Val)
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
NM_005401.5(PTPN14):c.2216C>T (p.Ala739Val)
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
NM_005401.5(PTPN14):c.2859A>G (p.Ile953Met)
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.456C>G (p.Asp152Glu)
NM_005401.5(PTPN14):c.581+60_669+877del
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
NM_005401.5(PTPN14):c.929+24del rs11322819
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
NM_080680.3(COL11A2):c.1773+8T>A rs1771229712
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351

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