ClinVar Miner

List of variants in gene GJA1 reported as likely benign for oculodentodigital dysplasia, autosomal recessive

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_000165.5(GJA1):c.1050A>G (p.Gly350=) rs147277470 0.00020
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000165.5(GJA1):c.327A>G (p.Lys109=) rs145279962 0.00018
NM_000165.5(GJA1):c.411C>T (p.Tyr137=) rs201088822 0.00017
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00014
NM_000165.5(GJA1):c.432G>A (p.Lys144=) rs201994305 0.00014
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00013
NM_000165.5(GJA1):c.189T>C (p.Asn63=) rs139688042 0.00011
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_000165.5(GJA1):c.825C>T (p.Thr275=) rs777305726 0.00010
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000165.5(GJA1):c.1098A>G (p.Arg366=) rs372862876 0.00007
NM_000165.5(GJA1):c.99A>G (p.Arg33=) rs752719742 0.00007
NM_000165.5(GJA1):c.1065A>G (p.Pro355=) rs1260325021 0.00002
NM_000165.5(GJA1):c.120G>A (p.Ala40=) rs1265524797 0.00002
NM_000165.5(GJA1):c.624C>T (p.Ile208=) rs530633057 0.00002
NM_000165.5(GJA1):c.885T>C (p.Asn295=) rs370436837 0.00002
NM_000165.5(GJA1):c.150T>A (p.Ser50=) rs1451772901 0.00001
NM_000165.5(GJA1):c.15C>T (p.Ser5=) rs758641783 0.00001
NM_000165.5(GJA1):c.18C>T (p.Ala6=) rs200520137 0.00001
NM_000165.5(GJA1):c.192C>T (p.Val64=) rs1390540506 0.00001
NM_000165.5(GJA1):c.66G>A (p.Gly22=) rs754592117 0.00001
NM_000165.5(GJA1):c.690T>C (p.Tyr230=) rs775689247 0.00001
NM_000165.5(GJA1):c.715C>A (p.Arg239=) rs1248411159 0.00001
NM_000165.5(GJA1):c.103C>T (p.Leu35=)
NM_000165.5(GJA1):c.1146C>T (p.Ile382=)
NM_000165.5(GJA1):c.180T>C (p.Gly60=)
NM_000165.5(GJA1):c.219T>C (p.Ser73=)
NM_000165.5(GJA1):c.264C>T (p.Pro88=)
NM_000165.5(GJA1):c.330G>A (p.Glu110=)
NM_000165.5(GJA1):c.357T>C (p.Asp119=) rs1773903093
NM_000165.5(GJA1):c.366T>C (p.Asn122=) rs2114283391
NM_000165.5(GJA1):c.393G>A (p.Glu131=)
NM_000165.5(GJA1):c.450G>T (p.Gly150=) rs752221637
NM_000165.5(GJA1):c.489T>A (p.Ser163=)
NM_000165.5(GJA1):c.492C>T (p.Ile164=)
NM_000165.5(GJA1):c.501G>A (p.Val167=)
NM_000165.5(GJA1):c.528C>A (p.Ile176=)
NM_000165.5(GJA1):c.606C>A (p.Arg202=)
NM_000165.5(GJA1):c.633C>T (p.Ile211=) rs2114283896
NM_000165.5(GJA1):c.645G>A (p.Val215=)
NM_000165.5(GJA1):c.651C>A (p.Ser217=)
NM_000165.5(GJA1):c.654G>A (p.Leu218=)
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.735C>T (p.Asp245=) rs779133243
NM_000165.5(GJA1):c.747G>A (p.Ala249=)
NM_000165.5(GJA1):c.747G>C (p.Ala249=)
NM_000165.5(GJA1):c.759G>T (p.Ala253=)
NM_000165.5(GJA1):c.81A>G (p.Ser27=)
NM_000165.5(GJA1):c.831C>T (p.Pro277=)
NM_000165.5(GJA1):c.852T>G (p.Pro284=)
NM_000165.5(GJA1):c.867T>A (p.Val289=)
NM_000165.5(GJA1):c.927C>T (p.Asn309=)
NM_000165.5(GJA1):c.942T>C (p.Ser314=)
NM_000165.5(GJA1):c.954T>C (p.Asn318=)
NM_000165.5(GJA1):c.969G>A (p.Ala323=)

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