ClinVar Miner

List of variants in gene HOGA1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala) rs1380918472 0.00001
NM_138413.4(HOGA1):c.290G>A (p.Arg97His) rs752252343 0.00001
NM_138413.4(HOGA1):c.341-1G>A rs1554874130 0.00001
NM_138413.4(HOGA1):c.604-1G>C rs1402747036 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138413.4(HOGA1):c.841C>T (p.Arg281Trp) rs764224799 0.00001
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.221T>C (p.Val74Ala)
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) rs796052088
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro)
NM_138413.4(HOGA1):c.290G>T (p.Arg97Leu) rs752252343
NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile) rs796052089
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.340+1G>C rs759407659
NM_138413.4(HOGA1):c.340+2T>C rs2135721485
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr)
NM_138413.4(HOGA1):c.468+1G>C
NM_138413.4(HOGA1):c.469-2A>G
NM_138413.4(HOGA1):c.568C>G (p.Pro190Ala) rs2135722254
NM_138413.4(HOGA1):c.568C>T (p.Pro190Ser)
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.770G>A (p.Cys257Tyr) rs2135723890
NM_138413.4(HOGA1):c.907C>G (p.Arg303Gly)
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys)
NM_138413.4(HOGA1):c.974G>A (p.Gly325Asp)

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