ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 3B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_002109.6(HARS1):c.1053C>G (p.Pro351=) rs1435212159
NM_002109.6(HARS1):c.1110C>T (p.Phe370=) rs761267344
NM_002109.6(HARS1):c.1124G>A (p.Arg375His)
NM_002109.6(HARS1):c.1213C>A (p.Arg405=)
NM_002109.6(HARS1):c.1221G>A (p.Thr407=) rs150274370
NM_002109.6(HARS1):c.1312-8C>T rs772505507
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg)
NM_002109.6(HARS1):c.39T>G (p.Leu13=)
NM_002109.6(HARS1):c.465A>G (p.Val155=) rs1202503765
NM_002109.6(HARS1):c.622C>T (p.Leu208=)
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848
NM_002109.6(HARS1):c.72G>A (p.Gln24=) rs148516171

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