ClinVar Miner

Variants in gene DNAH1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03637
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=) rs73072968 0.01641
NM_015512.5(DNAH1):c.4588A>G (p.Asn1530Asp) rs74498533 0.00903
NM_015512.5(DNAH1):c.3201C>T (p.Cys1067=) rs114066123 0.00742
NM_015512.5(DNAH1):c.2717A>G (p.Asp906Gly) rs61734644 0.00434
NM_015512.5(DNAH1):c.3111G>A (p.Ser1037=) rs77639782 0.00426
NM_015512.5(DNAH1):c.9935C>T (p.Thr3312Met) rs114919804 0.00415
NM_015512.5(DNAH1):c.5094+3A>T rs149183773 0.00383
NM_015512.5(DNAH1):c.3090G>A (p.Ala1030=) rs140275399 0.00355
NM_015512.5(DNAH1):c.2204G>A (p.Ser735Asn) rs187636110 0.00334
NM_015512.5(DNAH1):c.11136G>A (p.Arg3712=) rs147264705 0.00317
NM_015512.5(DNAH1):c.872-15C>T rs143657729 0.00315
NM_015512.5(DNAH1):c.11788-14C>T rs141567808 0.00310
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=) rs61734637 0.00310
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=) rs148913561 0.00302
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser) rs61734643 0.00302
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=) rs61739897 0.00300
NM_015512.5(DNAH1):c.1286+16G>A rs190176840 0.00289
NM_015512.5(DNAH1):c.7375G>A (p.Glu2459Lys) rs201064587 0.00273
NM_015512.5(DNAH1):c.4365C>T (p.Ala1455=) rs185313035 0.00218
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met) rs144580984 0.00215
NM_015512.5(DNAH1):c.8765C>T (p.Ala2922Val) rs182141515 0.00214
NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val) rs200859252 0.00190
NM_015512.5(DNAH1):c.1912G>A (p.Asp638Asn) rs201988957 0.00148
NM_015512.5(DNAH1):c.11043A>G (p.Thr3681=) rs200622578 0.00118
NM_015512.5(DNAH1):c.11970C>T (p.Asp3990=) rs376132414 0.00083
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=) rs372595174 0.00023
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_015512.5(DNAH1):c.7410C>T (p.His2470=) rs376198165 0.00014
NM_015512.5(DNAH1):c.1957C>T (p.Pro653Ser) rs200101285 0.00013
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala) rs199996069 0.00004

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