ClinVar Miner

List of variants in gene PCDH15 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
GRCh38/hg38 10q21.1(chr10:54417212-54436627)x3
GRCh38/hg38 10q21.1(chr10:55172554-55427295)x1
NM_001142771.1(PCDH15):c.3389-4C>T rs111739360
NM_033056.3(PCDH15):c.*9048G>A rs869312036
NM_033056.3(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.3(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.3(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.3(PCDH15):c.3502-14dup rs5785023
NM_033056.3(PCDH15):c.3718-19C>A rs75248212
NM_033056.3(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.3(PCDH15):c.3983+12T>C rs149867749
NM_033056.3(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) rs113363047
NM_033056.3(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.3(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_033056.3:c.+15180G>A
NM_033056.3:c.+15212A>C

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