ClinVar Miner

List of variants in gene ATP6V0A2, LOC130009117 studied for bone disorder

Included ClinVar conditions (1436):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00602
NM_012463.4(ATP6V0A2):c.-117C>T rs532360215 0.00315
NM_012463.4(ATP6V0A2):c.-170C>A rs540324717 0.00081
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_012463.4(ATP6V0A2):c.-148C>T rs886049059 0.00004
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00003
NM_012463.4(ATP6V0A2):c.-114G>A rs1264181324 0.00001
NM_012463.4(ATP6V0A2):c.117+1del rs1039808574
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs) rs2541822774
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) rs1956303931

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