ClinVar Miner

List of variants in gene CDHR1 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.55+1G>A rs547198427 0.00036
NM_033100.4(CDHR1):c.2041-2A>C rs763740152 0.00002
NM_033100.4(CDHR1):c.56-1G>A rs751972593 0.00001
NM_033100.4(CDHR1):c.784-1G>C rs777305743 0.00001
NM_033100.4(CDHR1):c.1167+2T>C rs2132820982
NM_033100.4(CDHR1):c.1168-1G>C rs1395276529
NM_033100.4(CDHR1):c.1782+1G>A
NM_033100.4(CDHR1):c.1783-2A>G rs2132833489
NM_033100.4(CDHR1):c.2041-1G>C
NM_033100.4(CDHR1):c.297+1G>A
NM_033100.4(CDHR1):c.439-1G>A
NM_033100.4(CDHR1):c.526-1G>A rs1842129715
NM_033100.4(CDHR1):c.640-2A>T rs2132807272
NM_033100.4(CDHR1):c.862+1G>T
NM_033100.4(CDHR1):c.863-1G>A rs886041900
NM_033100.4(CDHR1):c.964-1G>C

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