ClinVar Miner

List of variants in gene combination LRRC51, LRTOMT reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 63

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_145309.6(LRRC51):c.150G>T (p.Leu50=) rs144139038 0.00106
NM_145309.6(LRRC51):c.281T>C (p.Ile94Thr) rs369105155 0.00032
NM_145309.6(LRRC51):c.-140+5G>A rs767961368 0.00013
NM_145309.6(LRRC51):c.-162G>A rs886048626 0.00006
NM_145309.6(LRRC51):c.347G>A (p.Arg116His) rs145488053 0.00004
NM_145309.6(LRRC51):c.99G>A (p.Glu33=) rs886048627 0.00002
NM_145309.6(LRTOMT):c.230A>G (p.His77Arg) rs1382614042 0.00001
NM_145309.6(LRRC51):c.-140+1G>T rs1565309133
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413

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