ClinVar Miner

List of variants in gene LOC126863212, OFD1 studied for Joubert syndrome; Orofaciodigital syndrome I

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577 0.00027
NM_003611.3(OFD1):c.12+16C>T rs375680703 0.00002
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) rs778840618 0.00002
NM_003611.3(OFD1):c.12+18T>A rs1269853741 0.00001
NM_003611.3(OFD1):c.13-7C>A rs761622748 0.00001
NM_003611.3(OFD1):c.43A>G (p.Ser15Gly) rs2046814710 0.00001
NM_003611.3(OFD1):c.53A>C (p.Glu18Ala) rs1185798273 0.00001
NM_003611.3(OFD1):c.59G>A (p.Arg20His) rs2146904622 0.00001
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.8C>A (p.Ala3Glu) rs750315398 0.00001
NM_003611.3(OFD1):c.94A>G (p.Ile32Val) rs367927336 0.00001
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.11:g.(?_13735052)_(13744539_?)del
NM_003611.3(OFD1):c.105A>G (p.Thr35=) rs1331948057
NM_003611.3(OFD1):c.109A>G (p.Lys37Glu) rs2146904853
NM_003611.3(OFD1):c.111+2T>G rs312262809
NM_003611.3(OFD1):c.111+6G>A rs2518743881
NM_003611.3(OFD1):c.12+10C>A rs1301430671
NM_003611.3(OFD1):c.12+20C>T
NM_003611.3(OFD1):c.12+8C>T rs2518740649
NM_003611.3(OFD1):c.13-20A>G
NM_003611.3(OFD1):c.16A>G (p.Asn6Asp) rs148995835
NM_003611.3(OFD1):c.17A>G (p.Asn6Ser) rs750370428
NM_003611.3(OFD1):c.19A>G (p.Met7Val)
NM_003611.3(OFD1):c.19A>T (p.Met7Leu)
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.28G>C (p.Val10Leu)
NM_003611.3(OFD1):c.28G>T (p.Val10Leu) rs2518742965
NM_003611.3(OFD1):c.29T>C (p.Val10Ala) rs2046814185
NM_003611.3(OFD1):c.34G>T (p.Asp12Tyr) rs2518742999
NM_003611.3(OFD1):c.39G>T (p.Val13=)
NM_003611.3(OFD1):c.42G>A (p.Leu14=) rs1011201910
NM_003611.3(OFD1):c.43A>T (p.Ser15Cys)
NM_003611.3(OFD1):c.4A>G (p.Met2Val) rs2046800711
NM_003611.3(OFD1):c.61A>G (p.Lys21Glu) rs1473408729
NM_003611.3(OFD1):c.62A>G (p.Lys21Arg)
NM_003611.3(OFD1):c.7G>T (p.Ala3Ser) rs2046800981
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185

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