ClinVar Miner

List of variants in gene SMARCA2 reported as pathogenic for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln) rs1471482709 0.00001
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) rs1586660370
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) rs863224922
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2265G>C (p.Lys755Asn)
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys) rs281875199
NM_003070.5(SMARCA2):c.2647C>G (p.Pro883Ala) rs2130486548
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.3298A>C (p.Thr1100Pro) rs1252315133
NM_003070.5(SMARCA2):c.3313C>G (p.Arg1105Gly) rs281875192
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3386G>A (p.Gly1129Asp) rs1057523836
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn) rs886041299
NM_003070.5(SMARCA2):c.3446A>G (p.Asn1149Ser) rs1057520784
NM_003070.5(SMARCA2):c.3464A>C (p.Gln1155Pro) rs1064794024
NM_003070.5(SMARCA2):c.3466G>A (p.Ala1156Thr)
NM_003070.5(SMARCA2):c.3484C>A (p.Arg1162Ser)
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3650T>C (p.Leu1217Pro) rs886041954

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