ClinVar Miner

List of variants studied for Structural heart defects and renal anomalies syndrome

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_017799.4(TMEM260):c.1694G>A (p.Ser565Asn) rs1041316 0.73430
NM_017799.4(TMEM260):c.1778+12A>G rs913742 0.70519
NM_017799.4(TMEM260):c.858-14A>G rs2275024 0.62928
NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys) rs113277637 0.00601
NM_017799.4(TMEM260):c.649G>C (p.Gly217Arg) rs150439233 0.00051
NM_017799.4(TMEM260):c.1781T>C (p.Met594Thr) rs370852423 0.00029
NM_017799.4(TMEM260):c.377C>T (p.Ala126Val) rs1447833652 0.00006
NM_017799.4(TMEM260):c.1393C>T (p.Gln465Ter) rs201956469 0.00005
NM_017799.4(TMEM260):c.1869+1G>A rs141599092 0.00003
NM_017799.4(TMEM260):c.299T>C (p.Leu100Ser) rs767880042 0.00002
NM_017799.4(TMEM260):c.1688del (p.Thr563fs) rs1888745759 0.00001
NM_017799.4(TMEM260):c.2101C>G (p.Leu701Val) rs765488726 0.00001
NM_017799.4(TMEM260):c.344G>A (p.Arg115Lys) rs747632686 0.00001
NM_017799.4(TMEM260):c.604C>T (p.Pro202Ser) rs751129296 0.00001
NC_000014.8:g.(57088421_57092099)_(57092249_57099712)del
NM_017799.4(TMEM260):c.1410C>A (p.Tyr470Ter) rs375476463
NM_017799.4(TMEM260):c.1472G>A (p.Trp491Ter) rs1566561439
NM_017799.4(TMEM260):c.1519_1522dup (p.Tyr508fs) rs2503604772
NM_017799.4(TMEM260):c.160+2159_344+1212del
NM_017799.4(TMEM260):c.1644del (p.Pro549fs) rs1351329464
NM_017799.4(TMEM260):c.1694_1698delinsA (p.Ser565fs) rs2139626950
NM_017799.4(TMEM260):c.1698_1701del (p.Tyr567fs) rs1085307449
NM_017799.4(TMEM260):c.1744G>C (p.Glu582Gln) rs761443112
NM_017799.4(TMEM260):c.1783_1795dup (p.Phe599Ter) rs2503654780
NM_017799.4(TMEM260):c.1869+1G>T rs141599092
NM_017799.4(TMEM260):c.193-2A>G rs1885455089
NM_017799.4(TMEM260):c.1966dup (p.Arg656fs) rs766333701
NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs) rs568247949
NM_017799.4(TMEM260):c.257del (p.Pro86fs) rs2503448012
NM_017799.4(TMEM260):c.344+1dup
NM_017799.4(TMEM260):c.345-32A>G rs10782433
NM_017799.4(TMEM260):c.400C>T (p.Arg134Cys) rs149705965
NM_017799.4(TMEM260):c.417G>A (p.Trp139Ter)
NM_017799.4(TMEM260):c.529A>G (p.Lys177Glu) rs1886844875
NM_017799.4(TMEM260):c.721dup (p.Tyr241fs) rs773888234
NM_017799.4(TMEM260):c.74del (p.Gly25fs) rs1353172878
NM_017799.4(TMEM260):c.814del (p.Leu272fs)
NM_017799.4(TMEM260):c.817-9T>A rs746590544
NM_017799.4(TMEM260):c.862del (p.Gln288fs) rs2503562017
NM_017799.4(TMEM260):c.90_104dup (p.Ala35_Val36insAlaValPheAlaAla)
NM_017799.4(TMEM260):c.942-10T>C

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