ClinVar Miner

List of variants studied for hearing loss, autosomal recessive 108

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005012.4(ROR1):c.1170G>T (p.Ala390=) rs2762833 1.00000
NM_005012.4(ROR1):c.180C>T (p.Leu60=) rs1772626 0.79112
NM_005012.4(ROR1):c.1353A>G (p.Val451=) rs6668545 0.32509
NM_005012.4(ROR1):c.1553C>T (p.Thr518Met) rs7527017 0.26086
NM_005012.4(ROR1):c.1356G>C (p.Glu452Asp) rs777805288 0.00006
NM_005012.4(ROR1):c.1639C>T (p.Pro547Ser) rs137874089
NM_005012.4(ROR1):c.2207G>C (p.Arg736Thr) rs1553163562
NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp) rs760355948

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