ClinVar Miner

List of variants in gene OFD1 reported as uncertain significance for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
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.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys) rs761915805 0.00004
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977 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.815A>G (p.His272Arg) rs781277679 0.00002
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845 0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) rs774888576 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr) rs1354561362 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_003611.3(OFD1):c.*20_*22del
NM_003611.3(OFD1):c.1106T>C (p.Ile369Thr)
NM_003611.3(OFD1):c.1130-19T>A
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)
NM_003611.3(OFD1):c.1179GGA[1] (p.Glu395del)
NM_003611.3(OFD1):c.1193A>T (p.Gln398Leu)
NM_003611.3(OFD1):c.1235C>G (p.Ser412Cys)
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg)
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)
NM_003611.3(OFD1):c.1410C>G (p.Asn470Lys)
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)
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.1616T>C (p.Val539Ala)
NM_003611.3(OFD1):c.1697T>C (p.Ile566Thr)
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)
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.1942G>T (p.Ala648Ser)
NM_003611.3(OFD1):c.1985_1987del (p.Lys662del)
NM_003611.3(OFD1):c.2008CCA[1] (p.Pro671del)
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.217G>A (p.Ala73Thr)
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)
NM_003611.3(OFD1):c.2270G>C (p.Arg757Thr)
NM_003611.3(OFD1):c.2304C>A (p.Asp768Glu)
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_003611.3(OFD1):c.2351T>G (p.Ile784Ser) rs2047912842
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
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)
NM_003611.3(OFD1):c.2489-13G>A
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr)
NM_003611.3(OFD1):c.2600-3T>C
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
NM_003611.3(OFD1):c.2627A>G (p.Gln876Arg)
NM_003611.3(OFD1):c.2638_2642delinsAAAAT (p.Glu880_Lys881delinsLysIle)
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
NM_003611.3(OFD1):c.2757+5T>C
NM_003611.3(OFD1):c.281T>C (p.Phe94Ser)
NM_003611.3(OFD1):c.2918C>T (p.Ser973Leu)
NM_003611.3(OFD1):c.2928+7G>A
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)
NM_003611.3(OFD1):c.2944G>A (p.Val982Ile)
NM_003611.3(OFD1):c.2951_2952delinsGC (p.Glu984Gly)
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu) rs758646234
NM_003611.3(OFD1):c.312+2T>C
NM_003611.3(OFD1):c.353A>C (p.Asn118Thr)
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)
NM_003611.3(OFD1):c.382G>A (p.Val128Ile) rs766600036
NM_003611.3(OFD1):c.450TCA[1] (p.His151del) rs1569117650
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.706A>C (p.Lys236Gln)
NM_003611.3(OFD1):c.758G>A (p.Cys253Tyr)
NM_003611.3(OFD1):c.762A>C (p.Gln254His)
NM_003611.3(OFD1):c.851C>T (p.Ala284Val)
NM_003611.3(OFD1):c.856A>T (p.Arg286Trp)
NM_003611.3(OFD1):c.882T>A (p.Asp294Glu)
NM_003611.3(OFD1):c.919G>C (p.Val307Leu)

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