ClinVar Miner

Variants in gene DNAI1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe) rs1451350869 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761

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