ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002109.6(HARS1):c.1458+7G>A rs58302597 0.18812
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361 0.07468
NM_002109.6(HARS1):c.951+19G>A rs73271581 0.03048
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495 0.00513
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372 0.00428
NM_002109.6(HARS1):c.181-15G>C rs184748736 0.00405
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864 0.00375
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_002109.6(HARS1):c.730-17G>A rs189624055 0.00096
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969 0.00065
NM_002109.6(HARS1):c.396+20C>T rs191205977 0.00036
NM_002109.6(HARS1):c.903C>T (p.Asp301=) rs146835587 0.00034
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002109.6(HARS1):c.300+138G>A rs2530239
NM_002109.6(HARS1):c.721C>T (p.Leu241=)
NM_002109.6(HARS1):c.91-17del rs543418150

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