ClinVar Miner

List of variants reported as uncertain significance for hereditary disorder of connective tissue by MGZ Medical Genetics Center

Included ClinVar conditions (296):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813 0.00002
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln) rs2136534972
NM_001844.5(COL2A1):c.3435+4_3435+7del
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
NM_003036.4(SKI):c.182C>T (p.Pro61Leu) rs1557806444
NM_003978.5(PSTPIP1):c.790G>A (p.Asp264Asn)
NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg)
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
NM_024408.4(NOTCH2):c.5496G>T (p.Leu1832Phe)
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_144687.4(NLRP12):c.2110C>T (p.His704Tyr) rs1380366925
NM_207122.2(EXT2):c.571A>G (p.Met191Val) rs1324170921

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