ClinVar Miner

List of variants in gene HARS1 reported as benign for Usher syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002109.6(HARS1):c.1458+7G>A rs58302597
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys) rs117579809
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996
NM_002109.6(HARS1):c.903C>T (p.Asp301=) rs146835587

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