ClinVar Miner

List of variants in gene CSRP3 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_003476.5(CSRP3):c.112+1G>A rs746990436 0.00003
NM_003476.5(CSRP3):c.128del (p.Ala43fs) rs1187710437 0.00001
NM_003476.5(CSRP3):c.415-1G>T rs775194825 0.00001
NM_003476.5(CSRP3):c.281+2T>C
NM_003476.5(CSRP3):c.282-5_285del rs397516855
NM_003476.5(CSRP3):c.414+1G>A
NM_003476.5(CSRP3):c.414+1G>T rs935867046
NM_003476.5(CSRP3):c.415-2A>C rs1850502742

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