ClinVar Miner

List of variants reported as uncertain significance for capillary malformation by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn) rs137873272 0.00014
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_000020.3(ACVRL1):c.*132G>A rs867355962 0.00012
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met) rs369146413 0.00006
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) rs121918402 0.00006
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_000020.3(ACVRL1):c.*1107G>T rs1459562251 0.00003
NM_000020.3(ACVRL1):c.*2268G>C rs929096514 0.00003
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn) rs1231598304 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp) rs780987528 0.00003
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577 0.00002
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) rs778058646 0.00002
NM_001114753.3(ENG):c.1876G>A (p.Val626Met) rs745843047 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279 0.00001
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 0.00001
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) rs201031046 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
NM_000020.3(ACVRL1):c.*131C>T rs886049610
NM_000020.3(ACVRL1):c.*205G>A rs886049612
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) rs56301903
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser) rs1940782114
NM_000118.3(ENG):c.-339C>T rs554349374
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) rs892005175
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_002890.3(RASA1):c.239C>T (p.Ala80Val) rs764720303
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys) rs2112495755

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