ClinVar Miner

List of variants studied for anauxetic dysplasia 2

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001145860.2(POP1):c.2057+21A>G rs4735530 0.70291
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_001145860.2(POP1):c.1748G>A (p.Gly583Glu) rs374828868 0.00001
NM_001145860.2(POP1):c.1531G>T (p.Asp511Tyr) rs1060505025
NM_001145860.2(POP1):c.1573C>T (p.Pro525Ser) rs769183311
NM_001145860.2(POP1):c.1744C>T (p.Pro582Ser) rs1060505023
NM_001145860.2(POP1):c.2087T>A (p.Val696Asp) rs2130635894
NM_001145860.2(POP1):c.2607del (p.Glu870fs) rs1060505024
NM_001145860.2(POP1):c.486+2T>C

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