ClinVar Miner

List of variants reported as benign for basal cell carcinoma, susceptibility to, 1 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met) rs11573590 0.02555
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_003738.5(PTCH2):c.687C>T (p.Ala229=) rs11573576 0.01288
NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=) rs11573588 0.01285
NM_003738.5(PTCH2):c.90G>A (p.Leu30=) rs45573433 0.00945
NM_003738.5(PTCH2):c.1371+8A>G rs187485698 0.00661
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_003738.5(PTCH2):c.2695+8T>C rs145066065 0.00211
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) rs35851686 0.00152
NM_003738.5(PTCH2):c.1569G>A (p.Ala523=) rs143390610 0.00084
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) rs140921885 0.00066
NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile) rs561781541 0.00003
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) rs111471526

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