ClinVar Miner

List of variants studied for Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00043
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00006
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp) rs149790559 0.00006
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.2489-13G>A rs377737395 0.00005
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) rs371848382 0.00005
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys) rs1374240720 0.00004
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu) rs1376766768 0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys) rs761915805 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.2928+7G>A rs912239987 0.00003
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn) rs762218314 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00003
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_003611.3(OFD1):c.2304C>A (p.Asp768Glu) rs1285657350 0.00002
NM_003611.3(OFD1):c.353A>C (p.Asn118Thr) rs761683644 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val) rs770614769 0.00002
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00002
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00001
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864 0.00001
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro) rs758293823 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser) rs2047881997 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845 0.00001
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977 0.00001
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp) rs190688700 0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) rs774888576 0.00001
NM_003611.3(OFD1):c.2351T>G (p.Ile784Ser) rs2047912842 0.00001
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr) rs941770640 0.00001
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg) rs758641332 0.00001
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys) rs769469366 0.00001
NM_003611.3(OFD1):c.2918C>T (p.Ser973Leu) rs1801618 0.00001
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala) rs755625951 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.762A>C (p.Gln254His) rs775148893 0.00001
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr) rs1354561362 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.*20_*22del
NM_003611.3(OFD1):c.1055+1G>T
NM_003611.3(OFD1):c.1106T>C (p.Ile369Thr)
NM_003611.3(OFD1):c.111+6G>A rs2518743881
NM_003611.3(OFD1):c.112-4C>G rs1006144968
NM_003611.3(OFD1):c.1130-19T>A
NM_003611.3(OFD1):c.1179GGA[1] (p.Glu395del)
NM_003611.3(OFD1):c.1193A>T (p.Gln398Leu)
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1235C>G (p.Ser412Cys)
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg) rs752446194
NM_003611.3(OFD1):c.1330A>C (p.Lys444Gln)
NM_003611.3(OFD1):c.136C>G (p.His46Asp)
NM_003611.3(OFD1):c.1371A>G (p.Gln457=)
NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys) rs1311727007
NM_003611.3(OFD1):c.1410C>G (p.Asn470Lys)
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.1445T>C (p.Phe482Ser)
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.1526A>G (p.Lys509Arg)
NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)
NM_003611.3(OFD1):c.1586A>G (p.Lys529Arg)
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003611.3(OFD1):c.1604dup (p.Leu535fs)
NM_003611.3(OFD1):c.1616T>C (p.Val539Ala)
NM_003611.3(OFD1):c.1697T>C (p.Ile566Thr)
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp) rs983722470
NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)
NM_003611.3(OFD1):c.1819A>G (p.Arg607Gly)
NM_003611.3(OFD1):c.184A>G (p.Ile62Val)
NM_003611.3(OFD1):c.1895A>T (p.Lys632Met)
NM_003611.3(OFD1):c.1917G>T (p.Gln639His)
NM_003611.3(OFD1):c.1985_1987del (p.Lys662del)
NM_003611.3(OFD1):c.1A>G (p.Met1Val)
NM_003611.3(OFD1):c.2008CCA[1] (p.Pro671del) rs2518939342
NM_003611.3(OFD1):c.2047A>C (p.Thr683Pro)
NM_003611.3(OFD1):c.2069A>C (p.His690Pro)
NM_003611.3(OFD1):c.2098G>C (p.Glu700Gln)
NM_003611.3(OFD1):c.2161G>A (p.Ala721Thr)
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.216C>T (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.217G>A (p.Ala73Thr)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu) rs753498008
NM_003611.3(OFD1):c.2413C>A (p.Gln805Lys)
NM_003611.3(OFD1):c.2442C>A (p.Asp814Glu)
NM_003611.3(OFD1):c.2450C>T (p.Ala817Val) rs142703521
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2600-3T>C
NM_003611.3(OFD1):c.2627A>G (p.Gln876Arg) rs2518990412
NM_003611.3(OFD1):c.2638_2642delinsAAAAT (p.Glu880_Lys881delinsLysIle)
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.2757+5T>C
NM_003611.3(OFD1):c.281T>C (p.Phe94Ser)
NM_003611.3(OFD1):c.2944G>A (p.Val982Ile) rs2519003782
NM_003611.3(OFD1):c.2951_2952delinsGC (p.Glu984Gly)
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu) rs758646234
NM_003611.3(OFD1):c.382G>A (p.Val128Ile) rs766600036
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.450TCA[1] (p.His151del) rs1569117650
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr) rs746789801
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.706A>C (p.Lys236Gln)
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.758G>A (p.Cys253Tyr)
NM_003611.3(OFD1):c.815A>G (p.His272Arg) rs781277679
NM_003611.3(OFD1):c.851C>T (p.Ala284Val)
NM_003611.3(OFD1):c.856A>T (p.Arg286Trp)
NM_003611.3(OFD1):c.919G>C (p.Val307Leu)
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025

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