ClinVar Miner

List of variants in gene POMK studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000008.11:g.(?_43103539)_(43103840_?)del
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)
NM_032237.5(POMK):c.129C>T (p.Ile43=) rs761324803
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747
NM_032237.5(POMK):c.168C>G (p.Pro56=)
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070
NM_032237.5(POMK):c.222C>T (p.Cys74=) rs147680806
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552
NM_032237.5(POMK):c.265G>A (p.Glu89Lys)
NM_032237.5(POMK):c.271G>A (p.Ala91Thr) rs1365587547
NM_032237.5(POMK):c.282+8C>T rs376305406
NM_032237.5(POMK):c.288del (p.Leu97fs) rs606231306
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719
NM_032237.5(POMK):c.408G>A (p.Thr136=) rs372221328
NM_032237.5(POMK):c.410T>G (p.Leu137Arg) rs397509385
NM_032237.5(POMK):c.44G>A (p.Arg15Gln) rs377725187
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.457C>T (p.Pro153Ser)
NM_032237.5(POMK):c.47A>G (p.Glu16Gly)
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333
NM_032237.5(POMK):c.541C>T (p.Leu181=) rs563599638
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200
NM_032237.5(POMK):c.599G>A (p.Arg200Gln) rs146214675
NM_032237.5(POMK):c.599G>T (p.Arg200Leu)
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111
NM_032237.5(POMK):c.619G>A (p.Asp207Asn)
NM_032237.5(POMK):c.620A>G (p.Asp207Gly)
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414
NM_032237.5(POMK):c.715G>A (p.Gly239Arg) rs35104071
NM_032237.5(POMK):c.719T>C (p.Met240Thr)
NM_032237.5(POMK):c.732C>T (p.Cys244=) rs142479040
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198
NM_032237.5(POMK):c.76A>C (p.Ile26Leu) rs1586671643
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386
NM_032237.5(POMK):c.775C>T (p.Leu259=) rs947882915
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326
NM_032237.5(POMK):c.833A>G (p.Glu278Gly)
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253

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