ClinVar Miner

List of variants reported as uncertain significance for Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.9638A>G (p.Asn3213Ser) rs199560640 0.00026
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=) rs199813499 0.00021
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_015512.5(DNAH1):c.767G>A (p.Arg256Gln) rs200017350 0.00011
NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp) rs372166382 0.00008
NM_015512.5(DNAH1):c.9611G>A (p.Arg3204Gln) rs970203810 0.00004
NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp) rs561508479 0.00003
NM_015512.5(DNAH1):c.6436G>C (p.Glu2146Gln) rs946605027 0.00001
NM_015512.5(DNAH1):c.9371A>G (p.Asn3124Ser) rs202033408 0.00001
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His) rs200951874
NM_015512.5(DNAH1):c.2722A>G (p.Asn908Asp) rs1416177113
NM_015512.5(DNAH1):c.3253C>T (p.Arg1085Trp) rs199955529
NM_015512.5(DNAH1):c.4085_4086delinsTT (p.Arg1362Leu) rs1559525094
NM_015512.5(DNAH1):c.9505C>G (p.Arg3169Gly) rs185305129

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