ClinVar Miner

List of variants in gene FRAS1 reported as pathogenic for not provided

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Gene type:
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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter) rs201947516 0.00003
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter) rs757311669 0.00003
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter) rs186964660 0.00002
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter) rs1338479649 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter) rs1732862637 0.00001
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) rs753263924 0.00001
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter) rs748696533 0.00001
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter) rs1460031293 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter) rs377137481 0.00001
GRCh37/hg19 4q21.21(chr4:79214098-79261919)x1
NC_000004.11:g.(?_79158644)_(79240160_?)del
NC_000004.11:g.(?_79158644)_(79345594_?)del
NC_000004.11:g.(?_79173526)_(79173725_?)del
NC_000004.11:g.(?_79236728)_(79385757_?)del
NM_025074.7(FRAS1):c.10076del (p.Pro3359fs)
NM_025074.7(FRAS1):c.10088T>G (p.Leu3363Ter)
NM_025074.7(FRAS1):c.1014T>A (p.Cys338Ter)
NM_025074.7(FRAS1):c.10182del (p.Phe3395fs)
NM_025074.7(FRAS1):c.10597C>T (p.Arg3533Ter)
NM_025074.7(FRAS1):c.10651C>T (p.Gln3551Ter)
NM_025074.7(FRAS1):c.10677_10680del (p.Pro3560fs)
NM_025074.7(FRAS1):c.1075dup (p.Ser359fs)
NM_025074.7(FRAS1):c.10803T>G (p.Tyr3601Ter)
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter) rs1006839535
NM_025074.7(FRAS1):c.10827_10829dup (p.Tyr3610Ter)
NM_025074.7(FRAS1):c.10919del (p.Pro3640fs)
NM_025074.7(FRAS1):c.11106T>G (p.Tyr3702Ter)
NM_025074.7(FRAS1):c.11110C>T (p.Arg3704Ter)
NM_025074.7(FRAS1):c.1146_1147del (p.Cys382_Glu383delinsTer)
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025074.7(FRAS1):c.1158_1159insT (p.Ala387fs)
NM_025074.7(FRAS1):c.1174del (p.Tyr392fs)
NM_025074.7(FRAS1):c.1253C>G (p.Ser418Ter)
NM_025074.7(FRAS1):c.1346G>A (p.Trp449Ter)
NM_025074.7(FRAS1):c.1375del (p.Tyr459fs)
NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)
NM_025074.7(FRAS1):c.1636del (p.Ser546fs)
NM_025074.7(FRAS1):c.1700_1701insGTTTC (p.Ser567fs)
NM_025074.7(FRAS1):c.1877_1893del (p.Cys626fs)
NM_025074.7(FRAS1):c.1887del (p.Lys630fs)
NM_025074.7(FRAS1):c.1887dup (p.Lys630fs)
NM_025074.7(FRAS1):c.1931del (p.Gly644fs) rs794727195
NM_025074.7(FRAS1):c.2041C>T (p.Gln681Ter)
NM_025074.7(FRAS1):c.2153_2154del (p.Cys718fs)
NM_025074.7(FRAS1):c.2216T>A (p.Leu739Ter)
NM_025074.7(FRAS1):c.2272del (p.Cys758fs)
NM_025074.7(FRAS1):c.2317G>T (p.Glu773Ter)
NM_025074.7(FRAS1):c.2342del (p.Pro781fs)
NM_025074.7(FRAS1):c.234del (p.Ile78fs)
NM_025074.7(FRAS1):c.2376del (p.Ser793fs)
NM_025074.7(FRAS1):c.2557G>T (p.Glu853Ter)
NM_025074.7(FRAS1):c.2571del (p.Ala856_Cys857insTer) rs1560681144
NM_025074.7(FRAS1):c.2575delA (p.Lys859fs)
NM_025074.7(FRAS1):c.2590_2591del (p.Cys864fs)
NM_025074.7(FRAS1):c.275del (p.Pro92fs)
NM_025074.7(FRAS1):c.2776del (p.Arg926fs)
NM_025074.7(FRAS1):c.2791del (p.Val931fs) rs1578279277
NM_025074.7(FRAS1):c.2905del (p.Pro968_Leu969insTer)
NM_025074.7(FRAS1):c.2981C>G (p.Ser994Ter)
NM_025074.7(FRAS1):c.3204_3205del (p.Cys1068_Asp1069delinsTer)
NM_025074.7(FRAS1):c.3370dup (p.Ser1124fs) rs797044696
NM_025074.7(FRAS1):c.3398del (p.Gly1133fs)
NM_025074.7(FRAS1):c.3558del (p.Lys1186fs)
NM_025074.7(FRAS1):c.3563+1G>A
NM_025074.7(FRAS1):c.364del (p.Glu122fs) rs1560604726
NM_025074.7(FRAS1):c.3657dup (p.Val1220fs)
NM_025074.7(FRAS1):c.382del (p.Gln128fs)
NM_025074.7(FRAS1):c.382dup (p.Gln128fs)
NM_025074.7(FRAS1):c.3911_3918del (p.Val1304fs)
NM_025074.7(FRAS1):c.3955dup (p.Gln1319fs)
NM_025074.7(FRAS1):c.4016G>A (p.Trp1339Ter)
NM_025074.7(FRAS1):c.4038del (p.Gln1347fs)
NM_025074.7(FRAS1):c.4060C>T (p.Gln1354Ter)
NM_025074.7(FRAS1):c.4065dup (p.Glu1356fs)
NM_025074.7(FRAS1):c.4110_4119dup (p.Pro1374fs)
NM_025074.7(FRAS1):c.4157del (p.Pro1386fs)
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.4197del (p.Asp1399fs) rs1560710220
NM_025074.7(FRAS1):c.4234C>T (p.Gln1412Ter)
NM_025074.7(FRAS1):c.4393A>T (p.Lys1465Ter)
NM_025074.7(FRAS1):c.4450_4451insACAA (p.Ile1484fs)
NM_025074.7(FRAS1):c.4539del (p.Gly1514fs)
NM_025074.7(FRAS1):c.469+5G>T rs760212654
NM_025074.7(FRAS1):c.4732dup (p.Ser1578fs)
NM_025074.7(FRAS1):c.4951C>T (p.Arg1651Ter)
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5136del (p.Leu1713fs)
NM_025074.7(FRAS1):c.5541del (p.Arg1849fs)
NM_025074.7(FRAS1):c.5599C>T (p.Gln1867Ter)
NM_025074.7(FRAS1):c.562C>T (p.Gln188Ter)
NM_025074.7(FRAS1):c.5649dup (p.Glu1884Ter)
NM_025074.7(FRAS1):c.5667del (p.Asp1890fs)
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs) rs1725743022
NM_025074.7(FRAS1):c.5896dup (p.Leu1966fs)
NM_025074.7(FRAS1):c.5927_5928del (p.Ile1976fs)
NM_025074.7(FRAS1):c.5935del (p.Ser1979fs)
NM_025074.7(FRAS1):c.5989_5990del (p.Leu1997fs)
NM_025074.7(FRAS1):c.5999_6000delinsC (p.Lys2000fs)
NM_025074.7(FRAS1):c.6028C>T (p.Gln2010Ter)
NM_025074.7(FRAS1):c.6060_6061del (p.Arg2020fs)
NM_025074.7(FRAS1):c.6117dup (p.Tyr2040fs)
NM_025074.7(FRAS1):c.6298C>T (p.Gln2100Ter)
NM_025074.7(FRAS1):c.6372del (p.Arg2126fs)
NM_025074.7(FRAS1):c.6379del (p.Leu2127fs)
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025074.7(FRAS1):c.6565_6574del (p.Phe2189fs)
NM_025074.7(FRAS1):c.6730C>T (p.Gln2244Ter)
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.6967C>T (p.Gln2323Ter)
NM_025074.7(FRAS1):c.7005del (p.Lys2336fs) rs1131691572
NM_025074.7(FRAS1):c.7285C>T (p.Arg2429Ter)
NM_025074.7(FRAS1):c.7359C>G (p.Tyr2453Ter)
NM_025074.7(FRAS1):c.7444_7448del (p.Glu2482fs)
NM_025074.7(FRAS1):c.748_758del (p.Arg250fs)
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025074.7(FRAS1):c.7539del (p.Gly2513_Leu2514insTer)
NM_025074.7(FRAS1):c.7686C>A (p.Tyr2562Ter)
NM_025074.7(FRAS1):c.7867C>T (p.Arg2623Ter)
NM_025074.7(FRAS1):c.7966_7967del (p.Leu2656fs) rs2109856354
NM_025074.7(FRAS1):c.79_103dup (p.Leu35fs)
NM_025074.7(FRAS1):c.8353del (p.Val2785fs)
NM_025074.7(FRAS1):c.8396C>A (p.Ser2799Ter)
NM_025074.7(FRAS1):c.880C>T (p.Gln294Ter) rs372184784
NM_025074.7(FRAS1):c.8847_8848insA (p.Glu2950fs)
NM_025074.7(FRAS1):c.9181dup (p.Ala3061fs)
NM_025074.7(FRAS1):c.918del (p.Phe305_Cys306insTer)
NM_025074.7(FRAS1):c.9200del (p.Val3067fs)
NM_025074.7(FRAS1):c.9265C>T (p.Gln3089Ter)
NM_025074.7(FRAS1):c.9265del (p.Gln3089fs)
NM_025074.7(FRAS1):c.9295C>T (p.Arg3099Ter)
NM_025074.7(FRAS1):c.9371G>A (p.Trp3124Ter)
NM_025074.7(FRAS1):c.951del (p.Gly318fs)
NM_025074.7(FRAS1):c.9575del (p.Pro3192fs)
NM_025074.7(FRAS1):c.9584del (p.Pro3195fs)
NM_025074.7(FRAS1):c.95del (p.Asp32fs)
NM_025074.7(FRAS1):c.9690G>A (p.Trp3230Ter)
NM_025074.7(FRAS1):c.9765_9766del (p.Ser3256fs)
NM_025074.7(FRAS1):c.988G>T (p.Glu330Ter)
NM_025074.7(FRAS1):c.9912C>A (p.Cys3304Ter)
NM_025074.7(FRAS1):c.9925dup (p.Val3309fs)

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